Variant report

Variant	rs4520195
Chromosome Location	chr8:119938547-119938548
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11573806	1.00[MEX][hapmap]
rs11573900	1.00[MEX][hapmap]
rs11573913	0.87[AMR][1000 genomes]
rs11573921	0.87[AMR][1000 genomes]
rs11573951	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12375328	1.00[MEX][hapmap]
rs16891577	0.85[AMR][1000 genomes]
rs1804854	0.91[ASW][hapmap];1.00[MEX][hapmap];0.83[YRI][hapmap];0.87[AMR][1000 genomes]
rs56227038	0.90[AFR][1000 genomes]
rs57098524	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57164947	0.85[AMR][1000 genomes]
rs57337873	0.85[AMR][1000 genomes]
rs59029960	0.90[AFR][1000 genomes]
rs59601387	0.89[AFR][1000 genomes]
rs59710397	0.85[AMR][1000 genomes]
rs60864203	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61694778	0.90[AFR][1000 genomes]
rs6990900	0.85[AMR][1000 genomes]
rs7002995	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73315525	0.85[AMR][1000 genomes]
rs73319635	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73319660	0.89[AFR][1000 genomes]
rs73319661	0.88[AFR][1000 genomes]
rs73709377	0.90[AFR][1000 genomes]
rs7815884	0.91[ASW][hapmap];1.00[MEX][hapmap];0.87[AMR][1000 genomes]
rs7833877	1.00[MEX][hapmap]
rs7835154	0.87[AMR][1000 genomes]
rs882763	0.91[ASW][hapmap];1.00[MEX][hapmap];0.80[YRI][hapmap];0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119927400-119941400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr8:119928800-119956600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr8:119929000-119940400	Weak transcription	HSMMtube	muscle
4	chr8:119929200-119947400	Weak transcription	NH-A	brain
5	chr8:119933600-119942600	Weak transcription	Fetal Intestine Small	intestine
6	chr8:119933800-119941200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr8:119934600-119944000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:119934800-119941200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr8:119934800-119947400	Weak transcription	Adipose Nuclei	Adipose
10	chr8:119934800-119948000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:119935000-119956600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr8:119935200-119943600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr8:119935400-119939400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:119935600-119943200	Strong transcription	Osteobl	bone
15	chr8:119935600-119948000	Weak transcription	Left Ventricle	heart
16	chr8:119936200-119948000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:119936400-119940000	Weak transcription	Fetal Kidney	kidney
18	chr8:119936600-119946800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:119937000-119938800	Weak transcription	Aorta	Aorta
20	chr8:119937000-119941200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:119937000-119941400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:119937000-119941400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:119937000-119942000	Strong transcription	NHLF	lung
24	chr8:119937000-119943600	Strong transcription	NHDF-Ad	bronchial
25	chr8:119937000-119945200	Weak transcription	Lung	lung
26	chr8:119937000-119948000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:119937200-119940000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:119938000-119938800	Strong transcription	Liver	Liver
29	chr8:119938000-119941000	Strong transcription	HSMM	muscle
30	chr8:119938000-119941600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:119938400-119938800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:119938400-119941000	Strong transcription	Fetal Intestine Large	intestine

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